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dc.contributor.authorLafrenière, Ronalden_US
dc.contributor.authorCader, M Zameelen_US
dc.contributor.authorPoulin, Jean-Françoisen_US
dc.contributor.authorAndres-Enguix, Isabelleen_US
dc.contributor.authorSimoneau, Maryseen_US
dc.contributor.authorGupta, Namrataen_US
dc.contributor.authorBoisvert, Karineen_US
dc.contributor.authorLafrenière, Françoisen_US
dc.contributor.authorMcLaughlan, Shannonen_US
dc.contributor.authorDubé, Marie-Pierreen_US
dc.contributor.authorMarcinkiewicz, Martinen_US
dc.contributor.authorRamagopalan, Sreeramen_US
dc.contributor.authorAnsorge, Olafen_US
dc.contributor.authorBrais, Bernarden_US
dc.contributor.authorSequeiros, Jorgeen_US
dc.contributor.authorPereira-Monteiro, Jose Mariaen_US
dc.contributor.authorGriffiths, Lynen_US
dc.contributor.authorTucker, Stephenen_US
dc.contributor.authorEbers, Georgeen_US
dc.contributor.authorRouleau, Guyen_US
dc.date.accessioned2017-05-03T14:48:39Z
dc.date.available2017-05-03T14:48:39Z
dc.date.issued2010en_US
dc.date.modified2011-01-25T02:20:52Z
dc.identifier.issn10788956en_US
dc.identifier.doi10.1038/nm.2216en_AU
dc.identifier.urihttp://hdl.handle.net/10072/35661
dc.description.abstractMigraine with aura is a common, debilitating, recurrent headache disorder associated with transient and reversible focal neurological symptoms1. A role has been suggested for the two-pore domain (K2P) potassium channel, TWIK-related spinal cord potassium channel (TRESK, encoded by KCNK18), in pain pathways and general anaesthesia2. We therefore examined whether TRESK is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine. Here we report a frameshift mutation, F139WfsX24, which segregates perfectly with typical migraine with aura in a large pedigree. We also identified prominent TRESK expression in migraine-salient areas such as the trigeminal ganglion. Functional characterization of this mutation demonstrates that it causes a complete loss of TRESK function and that the mutant subunit suppresses wild-type channel function through a dominant-negative effect, thus explaining the dominant penetrance of this allele. These results therefore support a role for TRESK in the pathogenesis of typical migraine with aura and further support the role of this channel as a potential therapeutic target.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_AU
dc.languageEnglishen_US
dc.language.isoen_AU
dc.publisherNature Publishing Groupen_US
dc.publisher.placeUnited Statesen_US
dc.relation.ispartofstudentpublicationNen_AU
dc.relation.ispartofpagefrom1157en_US
dc.relation.ispartofpageto1160en_US
dc.relation.ispartofissue10en_US
dc.relation.ispartofjournalNature Medicineen_US
dc.relation.ispartofvolume16en_US
dc.rights.retentionYen_AU
dc.subject.fieldofresearchMedical and Health Sciences not elsewhere classifieden_US
dc.subject.fieldofresearchcode119999en_US
dc.titleA dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with auraen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.date.issued2010
gro.hasfulltextNo Full Text


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